Gene Expression and DNA Variation Analysis of Sacs to Identify the Pathophysiology of Indirect Inguinal Hernia

Genetic Predisposition to Disease Clinical Trial

Official title: Gene Expression and DNA Variation Analysis of Sacs to Identify the Pathophysiology of Indirect Inguinal Hernia

Status Active, not recruiting

Clinical Trial Summary

The aim of the project is to show that gene expression levels change in at least one of the GATA6 and T-box transcription factor 3 (TBX3) genes in indirect inguinal hernia sacs, thus revealing that this pathway causes an error in the sac closure pathway.

Indirect inguinal hernia is an important condition for human health as it is common in the community and can lead to life-threatening or permanent loss of function. In addition, since the treatment is performed surgically, the follow-up and treatment process of the patients should be managed carefully in terms of complications and costs. By explaining the mechanisms of the occurrence of this disease, important steps will be taken in terms of both human health and the development of science. Moreover, the data to be collected may open new horizons in the treatment of inguinal hernia.

20 inguinal hernia patients those consecutively applied to Trakya University Medical Faculty Department of Pediatric Surgery and 20 circumcision patients as control group will be included in the study.

Clinical Trial Description

Indirect inguinal hernia is one of the pathologies that is widely researched in national and international studies because of its high prevalence in the community and its life-threatening or permanent loss of function. However, no point has been reached regarding the etiology of this disease and a consensus has been reached.

The investigators believe that the study will contribute to the explanation of the formation mechanisms of the mentioned disease. Considering the high prevalence of this disease and its potential for life-threatening, the investigators anticipate that the analysis of the relevant genes for the Turkish population will make significant contributions to the public health. In the literature, analysis of GATA6 SNPs in the Chinese population has subsequently associated certain polymorphisms with indirect inguinal hernia. It is also been stated that TBX3 gene pathologies may be associated with inguinal hernia.

However, there is no study in the literature about the patent processus vaginalis expression levels of these genes. There is no study on the SNP analysis of these genes in Turkish population. For these reasons, the first time the expression / SNP analysis of the specified genes in Turkish society will be carried out will make an additional contribution to scientific knowledge. As stated clearly in the studies, the implementation of medical treatment of indirect inguinal hernia may change the approach of the pediatric surgical community to indirect inguinal hernia. In order for medical treatment to be carried out, the formation pathways and genetic origins of the disease must be clearly revealed.

Investigating the relationship of GATA6 and TBX3 genes, which are known to be involved in connective tissue homeostasis, with the mechanisms of indirect inguinal hernia formation, will contribute to the studies in the literature and is important in terms of revealing whether the treatment of these diseases can be performed medically in the future.

The study aims to reveal that gene expression levels in indirect inguinal hernia sacs due to SNPs in at least one of the GATA6 and TBX3 genes, thus causing an error in the sac closure pathway. The hypothesis of the study; It is stated that the gene expression levels of at least one of GATA6 and TBX3 in the sacs of inguinal hernia patients are altered.

The primary goal of this study is; To determine the level of GATA6 and TBX3 gene expression in sacs obtained from indirect inguinal hernia patients. The secondary goal is to investigate SNPs in the leukocytes of these patients and to investigate whether the genetic elements in our hypothesis in these diseases are regulated by different genes acting as transcription factors.

Considering that indirect inguinal hernia poses significant health risks, especially in children, it is predicted that the results to be obtained may contribute to clarification of the etiology and non-invasive methods other than surgery. ;

Related Conditions & MeSH terms

• Disease Susceptibility
• Genetic Predisposition to Disease
• Hernia
• Hernia, Inguinal
• Indirect Inguinal Hernia

• NCT number: NCT04634032
• Study type: Observational [Patient Registry]
• Source: Trakya University
• Status: Active, not recruiting
• Start date: October 22, 2019
• Completion date: November 20, 2020